OnlineIMD

Acrofacial dysostosis, Cincinnati type

  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • POLR1A / RNA Polymerase I Subunit A
      • 2p11.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • RNA polymerase I subunit A
  • Disease group(s)
    • 16.5.1    RNA polymerase I disorders